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    IAPP islet amyloid polypeptide [ Homo sapiens (human) ]

    Gene ID: 3375, updated on 2-Nov-2024

    Summary

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    Official Symbol
    IAPPprovided by HGNC
    Official Full Name
    islet amyloid polypeptideprovided by HGNC
    Primary source
    HGNC:HGNC:5329
    See related
    Ensembl:ENSG00000121351 MIM:147940; AllianceGenome:HGNC:5329
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DAP; IAP
    Summary
    This gene encodes a member of the calcitonin family of peptide hormones. This hormone is released from pancreatic beta cells following food intake to regulate blood glucose levels and act as a satiation signal. Human patients with type 1 and advanced type 2 diabetes exhibit reduced levels of the encoded hormone in blood and pancreas. This protein also exhibits a bactericidal, antimicrobial activity. [provided by RefSeq, Jul 2016]
    Expression
    Restricted expression toward pancreas (RPKM 16.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See IAPP in Genome Data Viewer
    Location:
    12p12.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (21354959..21379980)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (21233632..21258654)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21507893..21532914)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier organic anion transporter family member 1B1 Neighboring gene uncharacterized LOC124903123 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:21386467-21387666 Neighboring gene uncharacterized LOC124902895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:21402494-21402994 Neighboring gene solute carrier organic anion transporter family member 1A2 Neighboring gene NANOG hESC enhancer GRCh37_chr12:21477387-21477904 Neighboring gene NANOG hESC enhancer GRCh37_chr12:21491840-21492346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21546997-21547930 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21547931-21548862 Neighboring gene NANOG hESC enhancer GRCh37_chr12:21569666-21570167 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21572391-21572952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6087 Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 1 Neighboring gene elongin C pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6090 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21654373-21655080 Neighboring gene RecQ like helicase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Understanding the structural dynamics of human islet amyloid polypeptide: Advancements in and applications of ion-mobility mass spectrometry.
      Title: Understanding the structural dynamics of human islet amyloid polypeptide: Advancements in and applications of ion-mobility mass spectrometry.
    2. The Co-oligomers of Abeta42 and Human Islet Amyloid Polypeptide Exacerbate Neurotoxicity and Alzheimer-like Pathology at Cellular Level.
      Title: The Co-oligomers of Aβ42 and Human Islet Amyloid Polypeptide Exacerbate Neurotoxicity and Alzheimer-like Pathology at Cellular Level.
    3. Amylin, Another Important Neuroendocrine Hormone for the Treatment of Diabesity.
      Title: Amylin, Another Important Neuroendocrine Hormone for the Treatment of Diabesity.
    4. The Abeta42 Peptide and IAPP Physically Interact in a Yeast-Based Assay.
      Title: The Aβ42 Peptide and IAPP Physically Interact in a Yeast-Based Assay.
    5. Impact of Ca[2+] on membrane catalyzed IAPP amyloid formation and IAPP induced vesicle leakage.
      Title: Impact of Ca(2+) on membrane catalyzed IAPP amyloid formation and IAPP induced vesicle leakage.
    6. Interspecies Variation Affects Islet Amyloid Polypeptide Membrane Binding.
      Title: Interspecies Variation Affects Islet Amyloid Polypeptide Membrane Binding.
    7. Lipid domain boundary triggers membrane damage and protein folding of human islet amyloid polypeptide in the early pathogenesis of amyloid diseases.
      Title: Lipid domain boundary triggers membrane damage and protein folding of human islet amyloid polypeptide in the early pathogenesis of amyloid diseases.
    8. Plasma IAPP-Autoantibody Levels in Alzheimer's Disease Patients Are Affected by APOE4 Status.
      Title: Plasma IAPP-Autoantibody Levels in Alzheimer's Disease Patients Are Affected by APOE4 Status.
    9. Novel Hominid-Specific IAPP Isoforms: Potential Biomarkers of Early Alzheimer's Disease and Inhibitors of Amyloid Formation.
      Title: Novel Hominid-Specific IAPP Isoforms: Potential Biomarkers of Early Alzheimer's Disease and Inhibitors of Amyloid Formation.
    10. SORLA mediates endocytic uptake of proIAPP and protects against islet amyloid deposition.
      Title: SORLA mediates endocytic uptake of proIAPP and protects against islet amyloid deposition.
    Submit: New GeneRIF Correction See all GeneRIFs (304)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amyloid-beta binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables lipid binding EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables receptor ligand activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in amylin receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in amylin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in amyloid fibril formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in apoptotic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in bone resorption IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in eating behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of amyloid fibril formation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of bone resorption IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of ERK1 and ERK2 cascade IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of MAPK cascade NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of cAMP/PKA signal transduction IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of calcium-mediated signaling IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in protein destabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in inclusion body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    islet amyloid polypeptide
    Names
    Islet amyloid polypeptide (diabetes-associated peptide; amylin)
    amylin
    diabetes-associated peptide
    insulinoma amyloid peptide

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_000415.3 → NP_000406.1  islet amyloid polypeptide preproprotein

      See identical proteins and their annotated locations for NP_000406.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BQ548699, J04422, X14905
      Consensus CDS
      CCDS8688.1
      UniProtKB/Swiss-Prot
      P10997, Q0ZD87, Q14598
      UniProtKB/TrEMBL
      F5H0S1
      Related
      ENSP00000240652.3, ENST00000240652.8
      Conserved Domains (1) summary
      smart00113
      Location:32 → 73
      CALCITONIN; calcitonin

    2. NM_001329201.2 → NP_001316130.1  islet amyloid polypeptide preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA429852, AA446156, AC022224, BQ548699, J04422, X14905
      Consensus CDS
      CCDS8688.1
      UniProtKB/Swiss-Prot
      P10997, Q0ZD87, Q14598
      UniProtKB/TrEMBL
      F5H0S1
      Related
      ENSP00000437357.1, ENST00000539393.5
      Conserved Domains (1) summary
      smart00113
      Location:32 → 73
      CALCITONIN; calcitonin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      21354959..21379980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      21233632..21258654
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10997.1 GenPept UniProtKB/Swiss-Prot:P10997

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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